Variant report

Variant	rs139098318
Chromosome Location	chr9:72500965-72500966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr9:72500318-72501035	SK-N-SH	brain:	n/a	n/a
2	RXRA	chr9:72500398-72501019	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr9:72500287-72500998	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr9:72500354-72501011	A549	lung:	n/a	n/a
5	ZKSCAN1	chr9:72500614-72500972	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr9:72500293-72500989	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr9:72500900-72501050	HPAF	blood vessel:	n/a	n/a
8	EP300	chr9:72500174-72501100	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr9:72500900-72501050	HMEC	breast:	n/a	n/a
10	POLR2A	chr9:72500927-72501334	H1-neurons	neurons:	n/a	n/a
11	SP1	chr9:72500158-72501011	A549	lung:	n/a	n/a
12	EP300	chr9:72500247-72500973	A549	lung:	n/a	n/a
13	GATA3	chr9:72500258-72501067	A549	lung:	n/a	n/a
14	TEAD4	chr9:72500500-72500972	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr9:72500214-72500998	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr9:72500196-72501031	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr9:72500161-72501073	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr9:72500409-72501014	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr9:72500325-72500966	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr9:72500178-72501057	A549	lung:	n/a	n/a
21	FOXM1	chr9:72500198-72501061	ECC-1	luminal epithelium:	n/a	n/a
22	TEAD4	chr9:72500164-72501063	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72373598..72376289-chr9:72500894..72503778,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL570P	TF binding region
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv471310	chr9:72479046-72508302	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614580	chr9:72479046-72508302	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv466416	chr9:72479046-72513240	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv614581	chr9:72479046-72513240	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv893439	chr9:72500956-72568962	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72498400-72506800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:72499200-72501200	Enhancers	Psoas Muscle	Psoas
3	chr9:72499200-72501600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:72499200-72501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:72499200-72502200	Enhancers	HMEC	breast
6	chr9:72499400-72505400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:72499800-72501600	Enhancers	Hela-S3	cervix
8	chr9:72499800-72501600	Enhancers	HUVEC	blood vessel
9	chr9:72499800-72501600	Enhancers	NHEK	skin
10	chr9:72500000-72501200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:72500000-72501200	Enhancers	Liver	Liver
12	chr9:72500200-72501000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:72500200-72501000	Enhancers	Osteobl	bone
14	chr9:72500200-72501200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:72500200-72501200	Enhancers	HSMM	muscle
16	chr9:72500400-72501000	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:72500400-72501000	Enhancers	Brain Hippocampus Middle	brain
18	chr9:72500400-72501000	Enhancers	NH-A	brain
19	chr9:72500400-72501200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:72500400-72501200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:72500400-72501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:72500400-72501200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:72500400-72501200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:72500400-72501200	Enhancers	Brain Anterior Caudate	brain
25	chr9:72500400-72501600	Enhancers	Brain Angular Gyrus	brain
26	chr9:72500600-72501000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:72500600-72501000	Flanking Active TSS	A549	lung
28	chr9:72500600-72501200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:72500600-72501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:72500600-72501400	Enhancers	Fetal Heart	heart
31	chr9:72500600-72501600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:72500600-72508000	Weak transcription	Right Ventricle	heart
33	chr9:72500800-72509400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:72500800-72512800	Weak transcription	H1 Cell Line	embryonic stem cell

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